Abstract

In 2005, the 3q29 Deletion Syndrome was identified and defined as a rare chromosomal anomaly that effects approximately one in 30,000–40,000 children. It has a complex neuropsychiatric profile but often results in developmental delay, intellectual disability, attentional deficits, classic physical traits, behavioral health disturbances, as well as social and emotional issues. Rarely has this syndrome been seen and evaluated in fraternal twins, only one of whom has the 3q29 Deletion Syndrome. This case study highlights the twins’ strengths and weaknesses and describes their neuropsychological profiles, including a comparison of their results of the Reitan-Indiana Neuropsychological Battery (RINB). Medication management and psychoeducational interventions are outlined.

摘要

2005 年，3q29 缺失综合征被确定并定义为一种罕见的染色体异常，影响大约 30,000-40,000 名儿童中的一名。它具有复杂的神经精神特征，但通常会导致发育迟缓、智力障碍、注意力缺陷、典型的身体特征、行为健康障碍以及社会和情感问题。很少在异卵双胞胎中发现和评估这种综合征，其中只有一个患有 3q29 缺失综合征。本案例研究突出了这对双胞胎的长处和短处，并描述了他们的神经心理学概况，包括他们对 Reitan-Indiana 神经心理学电池 (RINB) 的结果的比较。概述了药物管理和心理教育干预。